A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv529e201



Internal ID20125416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:52809134..52857385hg38UCSC Ensembl
chr19:53312387..53360638hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3848252
hg1948252
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2718802, esv2718800
SamplesSSM036, SSM008, SSM083, SSM024, SSM075, SSM064, SSM009, SSM074, SSM088, SSM084, SSM018, SSM096, SSM019, SSM044, SSM081, SSM020, SSM007, SSM078, SSM016, SSM053, SSM080, SSM076, SSM055, SSM025
Known GenesZNF28, ZNF468
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)dgv529e201
Frequency
Sample Size96
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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